Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare and progressive brain disorder that primarily affects young children. It leads to significant health problems, including an abnormally large head size, movement difficulties, seizures, and cognitive impairments. Currently, no effective treatments are available for MLC, which is caused by genetic mutations that affect a protein called MLC1.

Our research project aims to understand better the structure and function of the MLC1 protein and how its malfunction leads to MLC. We will use advanced cryo-EM imaging techniques to study the detailed structure of MLC1 and its interaction with another protein called GlialCAM. Additionally, we will develop new laboratory methods to study how MLC1 functions in transporting ions across cell membranes, which is crucial for maintaining brain health.

By examining both the normal and mutated forms of MLC1, we hope to uncover how specific genetic changes disrupt its function. This information will be critical for identifying potential targets for new treatments. Ultimately, our goal is to pave the way for developing effective therapies that can improve the quality of life for individuals affected by MLC.

Furthermore, the insights gained from this study may also enhance our understanding of other leukodystrophies, contributing to broader scientific and medical advancements in the field of brain disorders.